Estudio de Peligrosidad Geológica de la Localidad de El Chaltén y de Procesos de Remoción en Masa de la Ladera Norte del Cerro Solo, Provincia de Santa Cruz

Fil: Baldi, Adriana. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Bedmar, José. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Kaufman, J. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Oliva, J. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Villegas, D. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Esta es la versión preliminar de lo que luego se convirtió en una contribución técnica de peligrosidad geológica. La misma puede encontrarse en: https://repositorio.segemar.gov.ar/handle/308849217/3616Con el fin de fortalecer y optimizar las acciones destinadas al manejo del riesgo desde todas sus dimensiones (análisis, prevención, preparación y respuesta), el Sistema Nacional de Gestión Integral del Riesgo (SINAGIR) solicitó al Servicio Geológico Minero Argentino (SEGEMAR) una evaluación de peligrosidad geológica de la localidad de El Chaltén y el análisis particular de peligrosidad por remoción en masa de la ladera norte del cerro Solo, provincia de Santa Cruz. El pedido surge debido a la existencia de procesos geológicos activos y ante la necesidad de estimar el grado de afectación sobre el área. La incidencia de los procesos depende de diversos aspectos tales como tipo de evento, magnitud, relaciones espaciales entre la actividad antrópica y el lugar de ocurrencia y extensión del fenómeno. El principal objetivo del desarrollo de cartografía de peligrosidad es mejorar el conocimiento del medio físico, para definir y zonificar las potenciales amenazas, que será de utilidad para: - La identificación de zonas prioritarias para estudios más detallados; - Establecer pautas de ordenamiento territorial y usos sugeridos del suelo; - Toma de decisiones de los organismos nacionales, provinciales y municipales orientadas a la elaboración de planes de prevención y de mitigación de desastres; - Contribuir al Inventario Nacional de Peligros y Riesgos Geológicos de la República Argentina, identificando y describiendo los sitios detectados en la base de datos del SEGEMAR y - Conocer el diagnóstico de la situación actual de la ladera del cerro Solo

Transancestral mapping and genetic load in systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (B50% of these regions have multiple independent associations); these include 24 novel SLE regions (Po5 10 8), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SL

Exploring the link between MORF4L1 and risk of breast cancer.

INTRODUCTION: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. METHODS: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. RESULTS: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to γ-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, Ptrend = 0.45 and 0.05, P2df = 0.51 and 0.14, respectively; and rs10519219, Ptrend = 0.92 and 0.72, P2df = 0.76 and 0.07, respectively. CONCLUSIONS: While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2 mutation carriers.RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

Climate Change, Coral Reef Ecosystems, and Management Options for Marine Protected Areas

Marine protected areas (MPAs) provide place-based management of marine ecosystems through various degrees and types of protective actions. Habitats such as coral reefs are especially susceptible to degradation resulting from climate change, as evidenced by mass bleaching events over the past two decades. Marine ecosystems are being altered by direct effects of climate change including ocean warming, ocean acidification, rising sea level, changing circulation patterns, increasing severity of storms, and changing freshwater influxes. As impacts of climate change strengthen they may exacerbate effects of existing stressors and require new or modified management approaches; MPA networks are generally accepted as an improvement over individual MPAs to address multiple threats to the marine environment. While MPA networks are considered a potentially effective management approach for conserving marine biodiversity, they should be established in conjunction with other management strategies, such as fisheries regulations and reductions of nutrients and other forms of land-based pollution. Information about interactions between climate change and more “traditional” stressors is limited. MPA managers are faced with high levels of uncertainty about likely outcomes of management actions because climate change impacts have strong interactions with existing stressors, such as land-based sources of pollution, overfishing and destructive fishing practices, invasive species, and diseases. Management options include ameliorating existing stressors, protecting potentially resilient areas, developing networks of MPAs, and integrating climate change into MPA planning, management, and evaluation

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

The known breast cancer (BC) susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1,LSP1 and 2q35 confer increased risks of BC for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of three additional SNPs, rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11 and rs10941679 at 5p12 and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased BC risk for BRCA2 carriers (per-allele Hazard Ratio (HR)=1.10, 95%CI:1.03-1.18, p=0.006 and HR=1.09, 95%CI:1.01-1.19, p=0.03, respectively). Neither SNP was associated with BC risk for BRCA1 carriers and rs6504950 was not associated with BC for either BRCA1 or BRCA2 carriers. Of the nine polymorphisms investigated, seven were associated with BC for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, p-values:7×10−11-0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (p=0.0049, 0.03 respectively). All risk associated polymorphisms appear to interact multiplicatively on BC risk for mutation carriers. Based on the joint genotype distribution of the seven risk associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e. between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing BC by age 80, compared with 42-50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences may be sufficient to influence the clinical management of mutation carriers

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene-smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene-smoking interaction analysis and 38 were newly identified (P <5 x 10(-8), false discovery rate <0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings.Peer reviewe

Estudio de Peligrosidad Geológica de la Localidad de El Chaltén y de Procesos de Remoción en Masa de la Ladera Norte del Cerro Solo, Provincia de Santa Cruz

Fil: Baldi, Adriana. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Bedmar, José. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Kaufman, J. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Oliva, J. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Villegas, D. Ministerio de Producción y Trabajo. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Con el fin de fortalecer y optimizar las acciones destinadas al manejo del riesgo desde todas sus dimensiones (análisis, prevención, preparación y respuesta), el Sistema Nacional de Gestión Integral del Riesgo (SINAGIR) solicitó al Servicio Geológico Minero Argentino (SEGEMAR) una evaluación de peligrosidad geológica de la localidad de El Chaltén y el análisis particular de peligrosidad por remoción en masa de la ladera norte del cerro Solo, provincia de Santa Cruz. El pedido surge debido a la existencia de procesos geológicos activos y ante la necesidad de estimar el grado de afectación sobre el área. La incidencia de los procesos depende de diversos aspectos tales como tipo de evento, magnitud, relaciones espaciales entre la actividad antrópica y el lugar de ocurrencia y extensión del fenómeno. El principal objetivo del desarrollo de cartografía de peligrosidad es mejorar el conocimiento del medio físico, para definir y zonificar las potenciales amenazas, que será de utilidad para: - La identificación de zonas prioritarias para estudios más detallados; - Establecer pautas de ordenamiento territorial y usos sugeridos del suelo; - Toma de decisiones de los organismos nacionales, provinciales y municipales orientadas a la elaboración de planes de prevención y de mitigación de desastres; - Contribuir al Inventario Nacional de Peligros y Riesgos Geológicos de la República Argentina, identificando y describiendo los sitios detectados en la base de datos del SEGEMAR y - Conocer el diagnóstico de la situación actual de la ladera del cerro Solo

Estado de Actividad, Peligros Asociados y Recomendaciones

Fil: Badi, Gabriela. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Carbajal, Fabricio. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Elissondo, Manuela. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: García, Sebastián. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Kaufman, Johanna. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Olivera Craig, Victoria Hipatía. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Fil: Sruoga, Patricia. CONICET; Argentina.Fil: Tejedo, Alejandra. Servicio Geológico Minero Argentino. Instituto de Geología y Recursos Minerales; Argentina.Este informe está destinado a las autoridades Nacionales, Provinciales y Municipales, al igual que a personal de Protección Civil, Gendarmería Nacional y Guarda parques, ante el incremento de actividad del Complejo Volcánico Planchón-Peteroa ocurrido el día viernes 14 de diciembre febrero de 2018. El objetivo del mismo consiste en exponer brevemente la historia geológica del volcán y sus peligros volcánicos, y la información con la que se cuenta a partir de los datos de monitoreo volcánico del Observatorio Argentino de Vigilancia Volcánica (OAVV) y del Observatorio Volcanológico de los Andes del Sur (OVDAS). Debe aclararse que la descripción de los peligros volcánicos que se realiza a continuación surge a partir de una recopilación de la información preexistente y que es de carácter cualitativo, sin incluir valores numéricos de probabilidad de ocurrencia y/o magnitud de los diferentes procesos